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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:esophageal disease
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Accession:DOID:6050 term browser browse the term
Definition:A gastrointestinal system disease that is located_in the esophagus. (DO)
Synonyms:exact_synonym: esophageal diseases
 narrow_synonym: esophageal ulcer
 primary_id: MESH:D004935
 xref: EFO:0009544;   ICD10CM:K22.9;   ICD9CM:530.9;   NCI:C3027
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
esophageal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV1 transient receptor potential cation channel subfamily V member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19566590 NCBI chr 9:47,404,987...47,443,871
Ensembl chr 9:47,404,972...47,431,926
JBrowse link
achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin ISO RGD PMID:16098009 RGD:1598514 NCBI chr27:1,889,078...1,900,097
Ensembl chr27:1,889,141...1,900,094
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP::rs28688207 (human)
DNA:polymorphism (human)
DNA:polymorphism, haplotype
CTD
RGD
PMID:11837716 PMID:24997987 PMID:30092016 PMID:30788115 RGD:14865011 RGD:14974238 RGD:5147806 NCBI chr12:2,305,307...2,307,711 JBrowse link
G LMNA lamin A/C ISO OMIM:200400 MouseDO NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G NOS1 nitric oxide synthase 1 ISO OMIM:200400 MouseDO NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO OMIM:200400 MouseDO NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878
JBrowse link
G VIPR1 vasoactive intestinal peptide receptor 1 onset ISO DNA:SNP:intron:rs437876 (human) RGD PMID:19309439 RGD:5685626 NCBI chr23:11,635,809...11,666,926
Ensembl chr23:11,635,394...11,666,936
JBrowse link
alacrima, achalasia, and impaired intellectual development syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAMP angio associated migratory cell protein ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:24,943,660...24,948,589
Ensembl chr37:24,937,081...24,948,529
JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,760,478...25,767,753
Ensembl chr37:25,760,477...25,769,841
JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,777,665...25,783,892
Ensembl chr37:25,777,713...25,783,887
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:24,914,389...24,935,998
Ensembl chr37:24,914,642...24,935,824
JBrowse link
G ASIC4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:26,024,136...26,048,060
Ensembl chr37:26,024,947...26,048,077
JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,768,287...25,777,529
Ensembl chr37:25,768,275...25,890,811
JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516
JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,010,856...25,024,682
Ensembl chr37:25,021,316...25,024,688
JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,528,934...25,535,795
Ensembl chr37:25,529,151...25,530,263
JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,569,302...25,601,943
Ensembl chr37:25,569,303...25,623,885
JBrowse link
G CHPF chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:26,048,236...26,052,871
Ensembl chr37:26,025,993...26,052,806
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,186,928...25,213,255
Ensembl chr37:25,187,066...25,212,642
JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,729,196...25,734,724
Ensembl chr37:25,729,180...25,737,627
JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,556,308...25,567,952
Ensembl chr37:25,556,303...25,564,284
JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,051,839...25,057,506
Ensembl chr37:25,050,267...25,056,113
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509
JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,826,496...25,834,011
Ensembl chr37:25,827,713...25,833,144
JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,898,015...25,917,997
Ensembl chr37:25,863,445...25,918,224
JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,548,578...25,552,092 JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,783,837...25,793,968
Ensembl chr37:25,783,816...25,792,589
JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome OMIM
ClinVar
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478 NCBI chr37:26,010,531...26,017,798
Ensembl chr37:26,010,638...26,017,787
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:24,937,955...24,943,546
Ensembl chr37:24,940,325...24,943,421
JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,616,942...25,622,989 JBrowse link
G MIR26B microRNA mir-26b ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,054,488...25,054,543 JBrowse link
G MIR375 microRNA mir-375 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,568,052...25,568,121
Ensembl chr37:25,568,052...25,568,127
JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,637,214...25,719,241
Ensembl chr37:25,637,601...25,715,372
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:26,059,713...26,079,503
Ensembl chr37:26,059,713...26,079,488
JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,221,329...25,244,492
Ensembl chr37:25,226,244...25,244,914
JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:24,948,763...25,008,542
Ensembl chr37:24,948,932...25,005,144
JBrowse link
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,405,794...25,414,745
Ensembl chr37:25,406,190...25,414,961
JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,835,590...25,854,050
Ensembl chr37:25,836,118...25,869,931
JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,734,960...25,740,950
Ensembl chr37:25,734,960...25,739,808
JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,266,945...25,273,269
Ensembl chr37:25,266,947...25,273,131
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,720,935...25,727,589
Ensembl chr37:25,720,809...25,732,831
JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601
JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,793,993...25,797,632
Ensembl chr37:25,794,382...25,797,587
JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,273,237...25,297,794
Ensembl chr37:25,273,110...25,340,512
JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:24,952,145...24,983,477
Ensembl chr37:24,952,902...24,958,137
JBrowse link
G TMEM198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:26,053,469...26,059,579
Ensembl chr37:26,052,168...26,058,810
JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,303,818...25,341,315
Ensembl chr37:25,273,110...25,340,512
JBrowse link
G TUBA4A tubulin alpha 4a ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,799,075...25,803,257
Ensembl chr37:25,796,107...25,802,892
JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,090,702...25,186,503
Ensembl chr37:25,090,702...25,186,503
JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,065,887...25,090,238
Ensembl chr37:25,065,180...25,090,705
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,452,875...25,457,437
Ensembl chr37:25,453,905...25,456,654
JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,757,454...25,760,366
Ensembl chr37:25,757,669...25,760,132
JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,244,783...25,262,585
Ensembl chr37:25,245,643...25,260,296
JBrowse link
Barrett's adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO RGD PMID:18059332 RGD:13782259 NCBI chr28:7,423,955...7,432,359
Ensembl chr28:7,428,772...7,432,370
JBrowse link
G GPX3 glutathione peroxidase 3 ISO DNA:hypermethylation
DNA:hypermethylation:promoter
RGD PMID:16229808 PMID:18664505 RGD:151665354 RGD:151665749 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
JBrowse link
G GPX7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr15:8,777,626...8,784,409 JBrowse link
Barrett's esophagus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASCC1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma OMIM
ClinVar
PMID:21791690 PMID:25741868 PMID:28492532 NCBI chr 4:22,779,644...22,876,434
Ensembl chr 4:22,779,781...22,874,215
JBrowse link
G B3GAT2 beta-1,3-glucuronyltransferase 2 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr12:33,321,691...33,400,516
Ensembl chr12:33,321,208...33,401,171
JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:22301112 RGD:11561943 NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:esophagus: RGD PMID:17570215 RGD:8699511 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G CDH13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:nucleus of esophagus mucosa: RGD PMID:11753681 RGD:8662398 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CDX2 caudal type homeobox 2 disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr25:11,701,134...11,707,883
Ensembl chr25:11,700,779...11,707,127
JBrowse link
G CTHRC1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma OMIM
ClinVar
PMID:21791690 NCBI chr13:4,801,049...4,811,565
Ensembl chr13:4,805,577...4,811,282
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr28:7,423,955...7,432,359
Ensembl chr28:7,428,772...7,432,370
JBrowse link
G FAS Fas cell surface death receptor severity ISO RGD PMID:10821489 RGD:12903968 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FOXP1 forkhead box P1 ISO DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) RGD PMID:25447851 RGD:11560527 NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397
JBrowse link
G GAST gastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 9:21,081,638...21,084,122
Ensembl chr 9:21,081,639...21,083,932
JBrowse link
G GATA6 GATA binding protein 6 disease_progression ISO protein:increased expression: esophagus squamous epithelium (human) RGD PMID:25445407 RGD:13208870 NCBI chr 7:65,932,114...65,962,574 JBrowse link
G GPX3 glutathione peroxidase 3 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
JBrowse link
G GPX7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr15:8,777,626...8,784,409 JBrowse link
G HGF hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO associated with Aneuploidy; protein:increased expression:serum: RGD PMID:18006928 RGD:12743582 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr17:59,759,605...59,763,111
Ensembl chr17:59,759,605...59,763,111
JBrowse link
G MIR145 microRNA mir-145 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210
JBrowse link
G MIR181A-1 microRNA mir-181a-1 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 7:4,055,465...4,055,526
Ensembl chr 7:4,055,465...4,055,526
JBrowse link
G MIR196A-2 microRNA mir-196a-2 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr27:1,270,718...1,270,776
Ensembl chr27:1,270,691...1,270,800
JBrowse link
G MIR199-1 microRNA mir-199-1 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr20:50,410,924...50,410,984
Ensembl chr20:50,410,913...50,410,994
JBrowse link
G MIR199-3 microRNA mir-199-3 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 9:55,262,354...55,262,412
Ensembl chr 9:55,262,328...55,262,437
JBrowse link
G MIR223 microRNA mir-223 disease_progression ISO RGD PMID:23757351 RGD:21408587 NCBI chr  X:50,838,131...50,838,233
Ensembl chr  X:50,838,131...50,838,233
JBrowse link
G MIR30A microRNA mir-30a ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr12:33,783,894...33,783,956
Ensembl chr12:33,783,891...33,783,961
JBrowse link
G MKI67 marker of proliferation Ki-67 severity ISO RGD PMID:22147251 RGD:6483521 NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG (rs1799750) (human) RGD PMID:19321798 RGD:7207058 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309
JBrowse link
G MSR1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma OMIM
ClinVar
PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr16:39,434,948...39,513,727
Ensembl chr16:39,436,753...39,527,438
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr18:45,416,347...45,438,226 JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr33:23,444,367...23,456,405
Ensembl chr33:23,432,690...23,455,347
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
JBrowse link
G PTGES prostaglandin E synthase ISO mRNA:increased expression:esophagus RGD PMID:14684572 RGD:2300107 NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO mRNA: increased expression: Esophagus
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11059772 PMID:12105834 PMID:15387324 PMID:17244951 PMID:17675820 More... RGD:13207438 RGD:1642603 RGD:7349348 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
JBrowse link
G RPRM reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882
G SLC9A1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364
JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033
JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr34:20,063,091...20,064,520
Ensembl chr34:20,063,090...20,064,557
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:25910066 RGD:11055189 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G ZNF793 zinc finger protein 793 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr 1:115,830,999...115,866,294
Ensembl chr 1:115,844,904...115,854,520
JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPC centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr13:58,013,218...58,091,347
Ensembl chr13:58,013,212...58,231,200
JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link
Deglutition Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEGF10 multiple EGF like domains 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr11:16,359,648...16,574,882
Ensembl chr11:16,378,669...16,617,335
JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Dysphagia ClinVar PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Dysphagia ClinVar PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr19:52,661,278...52,711,969
Ensembl chr19:52,661,155...52,709,279
JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Dysphagia ClinVar NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742
JBrowse link
G TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog ISO ClinVar Annotator: match by term: Dysphagia ClinVar PMID:35321494 NCBI chr20:6,650,347...6,703,407
Ensembl chr20:6,653,026...6,709,922
JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr20:6,031,295...6,090,938
Ensembl chr20:6,050,357...6,207,981
JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 1:103,021,519...103,027,460
Ensembl chr 1:103,021,525...103,026,643
JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 9:5,009,468...5,016,513
Ensembl chr 9:5,009,468...5,016,483
JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr 3:71,396,694...71,430,395
Ensembl chr 3:71,370,822...71,411,350
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr22:29,348,962...29,397,944
Ensembl chr22:29,348,706...29,407,965
JBrowse link
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEGF10 multiple EGF like domains 10 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 10A, SEVERE VARIANT | ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17236770 PMID:17576681 PMID:22101682 More... NCBI chr11:16,359,648...16,574,882
Ensembl chr11:16,378,669...16,617,335
JBrowse link
eosinophilic esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD27 ankyrin repeat domain 27 ISO DNA:SNPs:intron: (rs3815700, rs10410895) (human) RGD PMID:25407941 RGD:11100048 NCBI chr 1:119,325,132...119,377,266
Ensembl chr 1:119,325,873...119,376,948
JBrowse link
G B9D2 B9 domain containing 2 ISO RGD PMID:24486052 RGD:11073602 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CAPN14 calpain 14 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:esophagus
DNA:snps:multiple (human)
CTD
RGD
PMID:25017104 PMID:25407941 RGD:11100048 RGD:11100049 NCBI chr17:24,774,603...24,812,719
Ensembl chr17:24,775,059...24,811,742
JBrowse link
G CCL26 C-C motif chemokine ligand 26 treatment ISO protein:increased expression:esophagus (human) RGD PMID:18844613 PMID:24704289 RGD:11081156 RGD:11081157 NCBI chr 6:7,151,352...7,154,509
Ensembl chr 6:7,151,212...7,154,726
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:1316818 RGD:6893390 NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
JBrowse link
G CD40LG CD40 ligand ISO protein:decreased expression:plasma RGD PMID:21211656 RGD:5490306 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G IL5 interleukin 5 ISO RGD PMID:23161496 RGD:11354947 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:esophagus (human) RGD PMID:22331014 RGD:6771318 NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
JBrowse link
G TSLP thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20208534 NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
JBrowse link
esophageal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMBRA1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr18:42,903,815...43,073,918
Ensembl chr18:42,932,513...43,072,827
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
JBrowse link
G ATP6V0A1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:20,422,144...20,486,459
Ensembl chr 9:20,423,373...20,484,328
JBrowse link
G C2CD4A C2 calcium dependent domain containing 4A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr30:26,783,282...26,787,016 JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429
JBrowse link
G CDC27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:9,281,152...9,351,629
Ensembl chr 9:9,281,196...9,348,678
JBrowse link
G CMIP c-Maf inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:70,251,032...70,376,300
Ensembl chr 5:70,249,228...70,436,213
JBrowse link
G DISP1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:25741868 NCBI chr38:23,716,436...23,871,497
Ensembl chr38:23,711,780...23,871,846
JBrowse link
G DROSHA drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar
G DSCAM DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr31:34,666,300...35,277,651
Ensembl chr31:34,669,424...35,400,160
JBrowse link
G DST dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:23,715,637...24,195,220
Ensembl chr12:23,716,466...24,195,416
JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr 9:18,585,918...18,631,743
Ensembl chr 9:18,585,971...18,635,570
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548
JBrowse link
G HOXC4 homeobox C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chr27:1,209,510...1,246,873
Ensembl chr27:1,172,229...1,226,572
JBrowse link
G IGSF3 immunoglobulin superfamily member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr17:54,015,154...54,106,219
Ensembl chr17:54,017,456...54,106,535
JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
JBrowse link
G ITGB1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:3,728,472...3,757,696
Ensembl chr 2:3,670,596...3,756,961
JBrowse link
G KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr27:40,042,051...40,045,812
Ensembl chr27:40,044,334...40,045,812
JBrowse link
G MID2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:81,267,037...81,467,613
Ensembl chr  X:81,296,249...81,463,210
JBrowse link
G NAGS N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:19,344,073...19,349,395
Ensembl chr 9:19,344,902...19,349,207
JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
JBrowse link
G PDE4D phosphodiesterase 4D ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912
JBrowse link
G PLK2 polo like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:45,359,865...45,365,496
Ensembl chr 2:45,360,374...45,367,441
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:33,056,371...33,105,036
Ensembl chr  X:32,745,020...33,330,841
JBrowse link
G SIPA1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr18:51,560,551...51,571,291
Ensembl chr18:51,560,551...51,568,885
JBrowse link
G STAT5A signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:20,616,041...20,638,523
Ensembl chr 9:20,617,151...20,638,103
JBrowse link
G TCF4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chr 1:20,060,788...20,417,367
Ensembl chr 1:20,060,788...20,417,348
JBrowse link
G TENM2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:43,450,278...44,962,993
Ensembl chr 4:43,451,059...44,377,371
JBrowse link
G TENT5A terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:42,270,029...42,277,905
Ensembl chr12:42,274,000...42,277,513
JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:41,818,916...41,825,815
Ensembl chr  X:41,818,950...41,825,811
JBrowse link
esophageal atresia/tracheoesophageal fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 More... NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:2455662 PMID:3375802 PMID:16116421 PMID:16116423 PMID:16116424 More... NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
JBrowse link
G GLI2 GLI family zinc finger 2 ISO RGD PMID:12947339 RGD:12801415 NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658
JBrowse link
G NOG noggin ISO OMIM:189960 RGD
MouseDO
PMID:17260385 RGD:12801454 NCBI chr 9:31,453,604...31,456,060 JBrowse link
G SCLT1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868 PMID:28492532 NCBI chr19:12,001,802...12,178,971
Ensembl chr19:12,001,060...12,178,680
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:25003913 RGD:12801416 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
JBrowse link
esophageal cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased expression:esophagus (human) RGD PMID:27188433 RGD:152995510 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: Esophageal cancer, alcohol-related, susceptibility to ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... NCBI chr26:9,319,109...9,361,021 JBrowse link
G BHLHE41 basic helix-loop-helix family member e41 ISO protein:increased expression:esophagus(human) RGD PMID:29890466 RGD:151665308 NCBI chr27:21,464,302...21,469,119 JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 PMID:28492532 PMID:31911673 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO RGD PMID:9863006 RGD:2289811 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO RGD PMID:11833070 PMID:26782562 RGD:11554919 RGD:14700950 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ameliorates ISO RNA:decreased expression:esophagus (human) RGD PMID:14760115 RGD:152025255 NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216
JBrowse link
G DLEC1 DLEC1 cilia and flagella associated protein ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 NCBI chr23:7,813,305...7,889,322
Ensembl chr23:7,813,546...7,889,324
JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:29660336 RGD:21409755 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO DNA:hypermethylation RGD PMID:33292587 RGD:151665781 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:esophagus RGD PMID:20498946 RGD:4145286 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:26603620 RGD:152998997 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL1B interleukin 1 beta treatment ISO RGD PMID:26603620 RGD:152998997 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1R2 interleukin 1 receptor type 2 susceptibility ISO DNA:SNP:cds:rs11674595|rs2072472 (human) RGD PMID:31744444 RGD:152998961 NCBI chr10:40,967,532...41,003,659
Ensembl chr10:40,896,669...41,034,113
JBrowse link
G IL5 interleukin 5 treatment ISO RGD PMID:20232121 RGD:5134997 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
JBrowse link
G LZTS1 leucine zipper tumor suppressor 1 ISO esophageal squamous cell carcinoma, OMIM:133239 RGD PMID:10097140 RGD:1600104 NCBI chr25:36,764,235...36,814,204
Ensembl chr25:36,744,061...36,811,972
JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735
JBrowse link
G MIR155 microRNA mir-155 ISO RGD PMID:29660336 RGD:21409755 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:blood serum (human)
RNA:increased expression:esophagus (human)
RGD PMID:22638884 PMID:27188433 RGD:152995510 RGD:152998900 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MXI1 MAX interactor 1, dimerization protein ISO RGD PMID:10849326 RGD:1298988 NCBI chr28:21,584,856...21,655,233
Ensembl chr28:21,584,638...21,652,920
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO mRNA:splice variants:esophagus (human) RGD PMID:24527027 RGD:150519911 NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO protein:increased expression:esophagus (human) RGD PMID:27188433 RGD:152995510 NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
G PTEN phosphatase and tensin homolog treatment ISO human gene and cells in a mouse model
protein:decreased expression:esophagus (human)
RGD PMID:20378992 PMID:27188433 RGD:127285592 RGD:152995510 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO mRNA,protein:decreased expression:esophagus: RGD PMID:33862112 RGD:151232285 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:7664267 PMID:9395234 PMID:9536098 PMID:10789724 PMID:11212236 More... NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 severity
disease_progression
ISO DNA:SNP:3'utr: (rs583522) (human)
DNA:SNP:intron 6: (rs610604) (human)
RGD PMID:25354935 PMID:26598072 RGD:11075880 RGD:151347597 NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:7887414 PMID:8023157 PMID:8118819 PMID:8164043 PMID:8825920 More... NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:24456803 PMID:25411445 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:exon 9: p.T304A, c.910A>G (human) RGD PMID:24345911 RGD:150530620 NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816
JBrowse link
esophageal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC7 baculoviral IAP repeat containing 7 disease_progression ISO mRNA:increased expression:esophagus (human) RGD PMID:31964418 RGD:153344516 NCBI chr24:46,950,700...46,956,375
Ensembl chr24:46,952,474...46,955,495
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:17972177 PMID:18431501 PMID:18627636 PMID:18779604 PMID:21120943 More... NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:10027390 PMID:10192393 More... NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Esophageal carcinoma, somatic ClinVar PMID:8187090 NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967
JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:15623594 PMID:16205628 PMID:16707764 PMID:16863509 PMID:17653080 More... NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:26619011 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:16397024 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25741868 PMID:26619011 NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:25157968 PMID:26619011 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G GRB7 growth factor receptor bound protein 7 exacerbates ISO mRNA:increased expression:esophagus mucosa (human) RGD PMID:8988034 RGD:151347660 NCBI chr 9:22,743,370...22,751,936
Ensembl chr 9:22,743,402...22,750,896
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G HTRA1 HtrA serine peptidase 1 disease_progression ISO mRNA,protein:decreased expression:esophagus (human) RGD PMID:22935172 RGD:152985525 NCBI chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409
JBrowse link
G JAK2 Janus kinase 2 treatment ISO associated with Immune Deficiency Disease, human cells in mouse model RGD PMID:25724470 RGD:127285656 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:16361624 PMID:16618717 PMID:18316791 PMID:19114683 PMID:19679400 More... NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 exacerbates ISO mRNA:decreased expression:espohagus (human) RGD PMID:32831056 RGD:155630592 NCBI chr20:52,594,450...52,604,236
Ensembl chr20:52,594,536...52,602,150
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:25157968 PMID:26619011 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:26619011 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
JBrowse link
G SLC7A5 solute carrier family 7 member 5 severity ISO RGD PMID:15906366 RGD:151361282 NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858
JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 More... NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment ISO associated with Immune Deficiency Disease, human cells in mouse model RGD PMID:25724470 RGD:127285656 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 PMID:1565143 More... NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
Esophageal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21332314 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
JBrowse link
G ACTB actin beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845
JBrowse link
G AKAP13 A-kinase anchoring protein 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 3:49,076,313...49,310,564
Ensembl chr 3:49,076,642...49,308,221
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:8850269 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406566 NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119
JBrowse link
G AQP3 aquaporin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr11:50,517,509...50,524,565 JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BBC3 BCL2 binding component 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16481741 NCBI chr 1:108,742,793...108,750,832
Ensembl chr 1:108,741,713...108,749,946
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BCL2A1 BCL2 related protein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr 3:57,451,512...57,463,692
Ensembl chr 3:57,424,555...57,463,692
JBrowse link
G BSG basigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36574092 NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17450141 PMID:21472143 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12235107 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CCNH cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315
JBrowse link
G CDH13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A disease_progression ISO RGD PMID:11903577 RGD:8662379 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism
Protein:decreased expression:esophagus
CTD
RGD
PMID:10969811 PMID:18410530 RGD:1600828 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
JBrowse link
G CRYAB crystallin alpha B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7692001 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353
JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr28:7,423,955...7,432,359
Ensembl chr28:7,428,772...7,432,370
JBrowse link
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21298351 PMID:21468131 PMID:22042947 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G ENO1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22042947 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
JBrowse link
G FAS Fas cell surface death receptor ISO protein:decreased expression:esophageal mucosa: RGD PMID:9605741 RGD:11049151 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FASLG Fas ligand ISO protein:increased expression:esophageal mucosa: RGD PMID:9605741 RGD:11049151 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510
JBrowse link
G GNG7 G protein subunit gamma 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18219292 NCBI chr20:56,479,337...56,603,972 JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr12:58,932,754...59,991,305
Ensembl chr12:59,355,017...59,990,408
JBrowse link
G KDR kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 PMID:35917945 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G LGALS3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr 8:30,977,438...30,994,711
Ensembl chr 8:30,983,633...30,994,705
JBrowse link
G LZTS1 leucine zipper tumor suppressor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr25:36,764,235...36,814,204
Ensembl chr25:36,744,061...36,811,972
JBrowse link
G MACIR macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 3:7,956,865...7,968,964 JBrowse link
G MAP3K3 mitogen-activated protein kinase kinase kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 9:11,612,527...11,678,407
Ensembl chr 9:11,612,994...11,675,838
JBrowse link
G MARCHF8 membrane associated ring-CH-type finger 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr28:2,006,923...2,165,491
Ensembl chr28:2,072,181...2,161,981
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22042947 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21248297 NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210
JBrowse link
G MIR200C microRNA mir-200c ISO CTD Direct Evidence: marker/mechanism CTD PMID:21248297 NCBI chr27:38,082,097...38,082,159
Ensembl chr27:38,082,091...38,082,169
JBrowse link
G MIR21 microRNA mir-21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21248297 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MIR98 microRNA mir-98 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270317 NCBI chr  X:45,253,693...45,253,772
Ensembl chr  X:45,253,696...45,253,775
JBrowse link
G MLH3 mutL homolog 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16981255 NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
JBrowse link
G MT1E metallothionein 1E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:22844359 RGD:7207890 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264214 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr33:23,444,367...23,456,405
Ensembl chr33:23,432,690...23,455,347
JBrowse link
G PHB1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 9:25,525,711...25,536,722
Ensembl chr 9:25,526,649...25,536,722
JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971
JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr20:49,352,271...49,356,755
Ensembl chr20:49,352,266...49,356,682
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189197 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 susceptibility ISO DNA:SNPs: :-1195A > G, -765G > C (human)
mRNA,protein:increased expression:Esophagus
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11059772 PMID:16083713 PMID:16322294 PMID:17707579 PMID:22165968 RGD:5135528 RGD:5687745 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G RNF6 ring finger protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr25:13,199,201...13,240,347
Ensembl chr25:13,199,397...13,207,497
JBrowse link
G RPRM reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18058463
G SFN stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537
JBrowse link
G SLC30A7 solute carrier family 30 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 6:49,142,520...49,232,251
Ensembl chr 6:49,147,142...49,232,241
JBrowse link
G SMYD2 SET and MYND domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25825497 NCBI chr 7:12,281,581...12,331,294
Ensembl chr 7:12,281,710...12,331,164
JBrowse link
G SNAI2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr29:1,154,132...1,156,653
Ensembl chr29:1,154,036...1,156,653
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11053990 PMID:15986332 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr34:20,063,091...20,064,520
Ensembl chr34:20,063,090...20,064,557
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10789724 NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
JBrowse link
G TGM2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr24:26,631,339...26,662,723
Ensembl chr24:26,628,009...26,663,840
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:esophageal mucosa:
CTD
RGD
PMID:12706858 PMID:16778087 PMID:17634542 PMID:26192916 PMID:26439224 RGD:11075085 RGD:8547873 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TPM1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442
JBrowse link
G TPM4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr20:46,354,808...46,376,489
Ensembl chr20:46,355,736...46,376,425
JBrowse link
G TRMT11 tRNA methyltransferase 11 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:64,861,404...64,917,449
Ensembl chr 1:64,834,770...65,064,562
JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 6:18,357,223...18,360,929
Ensembl chr 6:18,357,244...18,361,557
JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15930319 NCBI chr 3:71,396,694...71,430,395
Ensembl chr 3:71,370,822...71,411,350
JBrowse link
G WIF1 WNT inhibitory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17384664 NCBI chr10:7,659,277...7,726,175
Ensembl chr10:7,659,491...7,726,859
JBrowse link
G WWOX WW domain containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406
JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:17611394 NCBI chr  X:95,300,234...95,356,103
Ensembl chr  X:95,331,827...95,351,582
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21347786 NCBI chr 8:71,441,732...71,452,922
Ensembl chr 8:71,442,429...71,449,408
JBrowse link
Esophageal Stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11121210 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
esophageal varix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO associated with ascites RGD PMID:8664482 RGD:1601159 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G SST somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:1385068 NCBI chr34:20,063,091...20,064,520
Ensembl chr34:20,063,090...20,064,557
JBrowse link
esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:esophagus: RGD PMID:17570215 RGD:8699511 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G IL13 interleukin 13 ISO RGD PMID:20543112 RGD:4145528 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
JBrowse link
G IL4R interleukin 4 receptor susceptibility ISO associated with carcinoma, non-small-cell lung;DNA:SNP: :rs1801275(human) RGD PMID:20811626 RGD:5131286 NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291
JBrowse link
G PGA pepsinogen 5, group I (pepsinogen A) ISO CTD Direct Evidence: marker/mechanism CTD PMID:12928072 NCBI chr18:55,131,441...55,140,119
Ensembl chr18:55,110,175...55,163,084
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO associated with carcinoma, non-small-cell lung; RGD PMID:20811626 RGD:5131286 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO protein:increased expression:epithelium RGD PMID:28370814 RGD:151361286 NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11121210 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G TNF tumor necrosis factor susceptibility ISO associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human) RGD PMID:20811626 RGD:5131286 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16091555 NCBI chr 9:47,404,987...47,443,871
Ensembl chr 9:47,404,972...47,431,926
JBrowse link
esophagus adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase onset ISO DNA:SNP:3'utr: (rs4740363) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23525077 PMID:31906887 RGD:127285649 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G BARX1 BARX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr 1:98,036,444...98,039,818
Ensembl chr 1:98,036,227...98,039,845
JBrowse link
G BCL2 BCL2 apoptosis regulator onset ISO DNA:SNPs:3'utr: (rs720321, rs17757541) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BECN1 beclin 1 ISO RGD PMID:22301112 RGD:11561943 NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 treatment ISO RGD PMID:26291056 RGD:152999007 NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240
JBrowse link
G CASP8 caspase 8 onset ISO DNA:SNP:5'utr: (rs1035142) (human) RGD PMID:21472143 RGD:126925218 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CDC5L cell division cycle 5 like disease_progression ISO protein:increased expression:esophageal mucosa (human) RGD PMID:15725809 RGD:10047052 NCBI chr12:12,779,936...12,822,978
Ensembl chr12:12,780,010...12,822,801
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
JBrowse link
G CRTC1 CREB regulated transcription coactivator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr20:44,315,021...44,394,385
Ensembl chr20:44,319,858...44,394,599
JBrowse link
G CTSB cathepsin B ISO RGD PMID:9770500 RGD:734853 NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 onset ISO DNA:SNP:5'utr: (rs2445762) (human) RGD PMID:21472143 RGD:126925218 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 treatment ISO mRNA:increased expression:esophagus (human) RGD PMID:30187205 RGD:151665176 NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216
JBrowse link
G DOCK2 dedicator of cytokinesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 4:41,779,950...42,177,957
Ensembl chr 4:41,780,436...42,235,177
JBrowse link
G ELMO1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr14:48,163,218...48,610,626
Ensembl chr14:48,164,049...48,730,248
JBrowse link
G EMX2 empty spiracles homeobox 2 ISO protein:decreased expression:esophagus (human) RGD PMID:31432154 RGD:153323302 NCBI chr28:28,002,966...28,009,955
Ensembl chr28:28,003,710...28,009,035
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snps:cds, 3' utr:c.354C>T, c.8092C>A (human) RGD PMID:18478337 RGD:13207314 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
JBrowse link
G FAS Fas cell surface death receptor ISO associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human) RGD PMID:10340890 RGD:8662425 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FOXA1 forkhead box A1 ISO protein:increased expression:esophagus RGD PMID:12234996 RGD:151665758 NCBI chr 8:16,072,629...16,083,105
Ensembl chr 8:16,079,140...16,083,807
JBrowse link
G FOXP1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism
DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human)
CTD
RGD
PMID:24121790 PMID:26383589 RGD:11535321 NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397
JBrowse link
G GHRL ghrelin and obestatin prepropeptide onset ISO DNA:SNP:5'utr: (rs696217) (human) RGD PMID:21472143 RGD:126925218 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510
JBrowse link
G GPX3 glutathione peroxidase 3 susceptibility ISO DNA:SNPs:intron: (rs4958872, rs3792797) (human) RGD PMID:22715394 RGD:152995500 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
JBrowse link
G GRB7 growth factor receptor bound protein 7 treatment
exacerbates
ISO human cells in a mouse model RGD PMID:31809243 PMID:32737994 RGD:151347656 RGD:151347659 NCBI chr 9:22,743,370...22,751,936
Ensembl chr 9:22,743,402...22,750,896
JBrowse link
G KDR kinase insert domain receptor onset ISO DNA:SNP:5'utr: (rs11941492) (human) RGD PMID:21472143 RGD:126925218 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G MIR21 microRNA mir-21 disease_progression ISO RGD PMID:26481465 RGD:41404702 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MMP1 matrix metallopeptidase 1 susceptibility ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309
JBrowse link
G MMP14 matrix metallopeptidase 14 onset ISO DNA:SNP:5'utr: (rs2236302) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) ISO DNA:insertion:promoter:g.-1613insA rs3025058 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:esophagus RGD PMID:25562781 RGD:13204790 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G NELL1 neural EGFL like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452981 NCBI chr21:42,654,925...43,468,806
Ensembl chr21:42,656,339...43,468,806
JBrowse link
G NOS3 nitric oxide synthase 3 onset ISO DNA:SNP:3'utr: (rs2070744) (human) RGD PMID:21472143 RGD:126925218 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO mRNA,protein:increased expression:Esophagus RGD PMID:22165968 RGD:5687745 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: esophagus
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12055587 PMID:12507933 RGD:13207437 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G SLC22A18 solute carrier family 22 member 18 disease_progression ISO DNA:hypermethylation: (human) RGD PMID:23243219 RGD:150557426 NCBI chr18:46,878,096...46,898,016
Ensembl chr18:46,878,030...46,898,006
JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 PMID:24952744 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033
JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:17785574 RGD:2317403 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G SPART spartin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr25:4,256,177...4,302,854
Ensembl chr25:4,232,533...4,316,363
JBrowse link
G TLR4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G VDR vitamin D receptor disease_progression
susceptibility
ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:24951052 PMID:25910066 RGD:11055189 RGD:13432070 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
esophagus small cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT14 keratin 14 ISO protein:increased expression:esophagus RGD PMID:16140947 RGD:1600174 NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
JBrowse link
esophagus squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21206495 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740
JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 7:67,682,421...67,691,035 JBrowse link
G AJUBA ajuba LIM protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 8:3,272,408...3,302,179
Ensembl chr 8:3,272,405...3,301,708
JBrowse link
G AKT1 AKT serine/threonine kinase 1 disease_progression ISO protein:increased expression:esophagus (human) RGD PMID:32642408 RGD:152995512 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 PMID:22960999 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ANXA1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011
JBrowse link
G ATM ATM serine/threonine kinase disease_progression ISO Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) RGD PMID:17019709 RGD:150340713 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504
JBrowse link
G AXIN1 axin 1 disease_progression ISO protein:decreased expression:esophagus (human) RGD PMID:12771989 RGD:150530473 NCBI chr 6:40,155,797...40,218,330
Ensembl chr 6:40,158,244...40,218,343
JBrowse link
G AZGP1 alpha-2-glycoprotein 1, zinc-binding disease_progression ISO RGD PMID:28053542 RGD:153350138 NCBI chr 6:9,622,991...9,629,154
Ensembl chr 6:9,622,992...9,629,154
JBrowse link
G AZIN1 antizyme inhibitor 1 ISO RGD PMID:24302582 RGD:14700707 NCBI chr13:4,363,996...4,396,069
Ensembl chr13:4,361,340...4,396,040
JBrowse link
G B2M beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997
JBrowse link
G BLVRB biliverdin reductase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:113,244,484...113,258,170
Ensembl chr 1:113,244,503...113,258,073
JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO RGD PMID:21165554 RGD:126781701 NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613
JBrowse link
G BMP6 bone morphogenetic protein 6 ISO protein:increased expression:esophagus RGD PMID:22364398 RGD:7242413 NCBI chr35:7,780,763...7,833,095
Ensembl chr35:7,804,231...7,831,845
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:SNP: :rs799917 (human) RGD PMID:23749772 RGD:126925960 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:nonsense mutation: :p.K3326X (human) RGD PMID:21279724 RGD:11344913 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G BST2 bone marrow stromal cell antigen 2 disease_progression ISO RGD PMID:26832883 RGD:14398496 NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr30:7,361,982...7,410,162
Ensembl chr30:7,322,912...7,438,052
JBrowse link
G CA1 carbonic anhydrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr29:31,858,644...31,868,135
Ensembl chr29:31,858,636...31,868,158
JBrowse link
G CA12 carbonic anhydrase 12 severity ISO RGD PMID:26316888 RGD:155226859 NCBI chr30:27,903,460...27,957,162
Ensembl chr30:27,905,837...27,957,742
JBrowse link
G CA2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579
JBrowse link
G CALR calreticulin ameliorates ISO CTD Direct Evidence: marker/mechanism
human cells in a mouse model
CTD
RGD
PMID:19684620 PMID:21517111 PMID:23814025 RGD:150521679 RGD:150521703 NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245
JBrowse link
G CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:62,900,062...62,948,164
Ensembl chr17:62,901,422...62,948,084
JBrowse link
G CASP8 caspase 8 exacerbates ISO mRNA,protein:decreased expression:esophagus squamous epithelium (human) RGD PMID:31885720 RGD:153300949 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CBX8 chromobox 8 severity ISO mRNA:increased expression:esophagus: RGD PMID:25197352 RGD:9587436 NCBI chr 9:1,839,701...1,842,355
Ensembl chr 9:1,839,096...1,843,099
JBrowse link
G CCHCR1 coiled-coil alpha-helical rod protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr12:842,093...855,014
Ensembl chr12:837,993...854,978
JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15375580 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CFL1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212
JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit susceptibility ISO DNA:SNP: :rs667282(human)
mRNA:increased expression:esophagus (human)
RGD PMID:23844051 PMID:27610024 RGD:150524358 RGD:151361143 NCBI chr13:38,343,966...38,355,534
Ensembl chr13:38,346,104...38,355,468
JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit disease_progression
exacerbates
ISO mRNA:increased expression:esophagus (human) RGD PMID:27610024 PMID:33603170 RGD:151361143 RGD:151667905 NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399
JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO mRNA:increased expression:esophagus (human) RGD PMID:27610024 RGD:151361143 NCBI chr13:38,312,537...38,327,242
Ensembl chr13:38,312,173...38,328,341
JBrowse link
G CLIC1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:1,209,777...1,215,229
Ensembl chr12:1,209,780...1,215,229
JBrowse link
G CLPTM1L CLPTM1 like susceptibility
no_association
ISO DNA:SNP: :rs451360(human)
DNA:SNP: :rs401681(human)
mRNA:increased expression:esophagus
RGD PMID:24386361 PMID:25007268 PMID:25480402 PMID:26716642 RGD:11572962 RGD:150530488 RGD:150530497 RGD:150537098 NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436
JBrowse link
G COL14A1 collagen type XIV alpha 1 chain disease_progression ISO DNA:hypermethylation RGD PMID:25050929 RGD:151665741 NCBI chr13:19,033,423...19,249,189
Ensembl chr13:19,011,897...19,248,568
JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438526 NCBI chr 3:58,446,222...58,449,789 JBrowse link
G CREBBP CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:32038997 RGD:150524298 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G CSTB cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma ClinVar PMID:25157968 PMID:25741868 PMID:26619011 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO mRNA:increased expression:esophagus (human) RGD PMID:31423201 RGD:150520019 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 disease_progression ISO protein:increased expression:esophagus squamous epithelium (human) RGD PMID:17171785 RGD:152023646 NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO RGD PMID:11860825 RGD:14700943 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO protein:increased expression:esophagus (rat) RGD PMID:18618592 RGD:7829715 NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility ISO DNA:SNP:CDS: (rs2296241) (human) RGD PMID:28362172 RGD:151665500 NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216
JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr17:50,633,397...50,653,882
Ensembl chr17:50,633,413...50,653,894
JBrowse link
G CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11241319 NCBI chr 1:112,900,508...112,906,745
Ensembl chr 1:112,900,403...112,907,076
JBrowse link
G DAB2IP DAB2 interacting protein severity ISO protein:decreased expression:esophagus (human) RGD PMID:30464518 RGD:151665168 NCBI chr 9:60,725,887...60,918,242
Ensembl chr 9:60,726,809...60,918,139
JBrowse link
G DCC DCC netrin 1 receptor ISO OMIM NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967
JBrowse link
G DIDO1 death inducer-obliterator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr24:46,691,117...46,735,117
Ensembl chr24:46,692,605...46,724,505
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO protein:increased expression:nucleus: RGD PMID:22213175 RGD:9589085 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
JBrowse link
G DPP4 dipeptidyl peptidase 4 ISO protein:increased expression: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr36:7,398,713...7,472,554
Ensembl chr36:7,399,643...7,454,204
JBrowse link
G EFNB2 ephrin B2 exacerbates
ameliorates
severity
ISO mRNA,protein:increased expression:esophagus squamous epithelium (human)
human cells in mouse model
mRNA:increased expression:esophagus squamous epithelium (human)
RGD PMID:17611172 PMID:29190834 PMID:31885720 RGD:153300947 RGD:153300948 RGD:153300949 NCBI chr22:55,567,992...55,609,210
Ensembl chr22:55,566,039...55,609,443
JBrowse link
G EGFR epidermal growth factor receptor severity ISO protein:increased expression:esophagus (human)
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma
RGD
ClinVar
PMID:10385363 PMID:23485129 PMID:25157968 RGD:5131486 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 disease_progression ISO protein:increased expression:esophagus mucosa:
protein:increased expression:esophagus:
RGD PMID:24649311 PMID:24805087 RGD:9589143 RGD:9590071 NCBI chr 9:48,031,593...48,110,954
Ensembl chr 9:48,032,709...48,175,828
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 disease_progression ISO protein:increased expression:esophagus mucosa: RGD PMID:24805087 RGD:9590071 NCBI chr12:1,341,202...1,354,602
Ensembl chr12:1,341,191...1,354,584
JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17965222 PMID:25151357 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
JBrowse link
G EPB41L3 erythrocyte membrane protein band 4.1 like 3 disease_progression ISO DNA:hypermethylation RGD PMID:25050929 RGD:151665741 NCBI chr 7:71,734,325...72,001,496
Ensembl chr 7:71,747,333...71,868,751
JBrowse link
G EPHB4 EPH receptor B4 exacerbates ISO mRNA,protein:increased expression:esophagus squamous epithelium (human) RGD PMID:31885720 RGD:153300949 NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 disease_progression
susceptibility
ISO protein:altered localization:nucleus
DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)
RGD PMID:18000820 PMID:24916311 RGD:126781764 RGD:126781765 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO RGD PMID:23263828 RGD:11252162 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO RGD PMID:21165554 PMID:25613619 RGD:126781697 RGD:126781701 NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838
JBrowse link
G FANCA FA complementation group A ISO DNA:missense mutation: :p.S858R (human) RGD PMID:21279724 RGD:11344913 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
JBrowse link
G FAP fibroblast activation protein alpha ISO protein:increased expression: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr36:7,574,364...7,647,448
Ensembl chr36:7,575,161...7,647,226
JBrowse link
G FASN fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 9:233,105...249,573
Ensembl chr 9:232,963...249,092
JBrowse link
G FAT1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:esophagus squamous epithelium (human)
protein:decreased expression:esophagus squamous epithelium (human)
CTD
RGD
PMID:24590895 PMID:25151357 PMID:29365412 RGD:151347630 RGD:151347646 NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192
JBrowse link
G FAT2 FAT atypical cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 4:57,743,007...57,823,740
Ensembl chr 4:57,742,651...57,823,740
JBrowse link
G FAT3 FAT atypical cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr21:7,711,304...8,355,609
Ensembl chr21:7,711,995...8,213,266
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
JBrowse link
G FES FES proto-oncogene, tyrosine kinase exacerbates ISO DNA:hypermethylation: (human) RGD PMID:24936140 RGD:153323298 NCBI chr 3:53,346,975...53,356,547
Ensembl chr 3:53,347,012...53,356,516
JBrowse link
G FGFR4 fibroblast growth factor receptor 4 treatment ISO RGD PMID:25989802 RGD:150520041 NCBI chr 4:36,243,689...36,254,636
Ensembl chr 4:36,244,220...36,252,035
JBrowse link
G FKBP1A FKBP prolyl isomerase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr24:19,618,581...19,643,685
Ensembl chr24:19,618,558...19,643,046
JBrowse link
G FOXA1 forkhead box A1 onset ISO DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human) RGD PMID:27050876 PMID:29788741 RGD:151665743 RGD:151665759 NCBI chr 8:16,072,629...16,083,105
Ensembl chr 8:16,079,140...16,083,807
JBrowse link
G FUBP1 far upstream element binding protein 1 exacerbates ISO protein:increased expression:esophagus (human)
mRNA:increased expression:esophagus (human)
RGD PMID:26490982 PMID:32481602 RGD:151361192 RGD:151361197 NCBI chr 6:68,923,215...68,963,766 JBrowse link
G GDI2 GDP dissociation inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:30,150,769...30,168,957
Ensembl chr 2:30,150,769...30,169,110
JBrowse link
G GLO1 glyoxalase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:7,584,141...7,609,615
Ensembl chr12:7,585,531...7,609,550
JBrowse link
G GPX3 glutathione peroxidase 3 disease_progression ISO DNA:hypermethylation RGD PMID:25050929 PMID:30018730 RGD:151665494 RGD:151665741 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
JBrowse link
G GRB7 growth factor receptor bound protein 7 exacerbates ISO protein:increased expression:esophagus (human)
mRNA:increased expression:esophagus mucosa (human)
RGD PMID:10797316 PMID:26465158 RGD:151347654 RGD:151347661 NCBI chr 9:22,743,370...22,751,936
Ensembl chr 9:22,743,402...22,750,896
JBrowse link
G GSTO1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr28:16,569,421...16,579,239
Ensembl chr28:16,569,066...16,619,880
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO DNA:polymorphism: :p.I105V (human) RGD PMID:17916905 RGD:14700982 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G H2BC27 H2B clustered histone 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr14:596,292...599,815
Ensembl chr14:599,408...599,788
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17201171 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G HMGB1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165
JBrowse link
G HOXB7 homeobox B7 severity ISO protein:increased expression:esophageal mucosa (human) RGD PMID:26076456 RGD:10402177 NCBI chr 9:24,870,037...24,874,517
Ensembl chr 9:24,870,612...24,873,453
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257
JBrowse link
G HTRA1 HtrA serine peptidase 1 ameliorates
exacerbates
ISO human gene and cells in mouse model
mRNA,protein:decreased expression:epithelium of esophagus (human)
RGD PMID:23079781 RGD:152975633 NCBI chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 severity ISO human cells in mouse model RGD PMID:32367071 RGD:149735568 NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496
JBrowse link
G JAK2 Janus kinase 2 severity ISO protein:increased phosphorylation:esophagus squamous epithelium (human) RGD PMID:32158193 RGD:127285669 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit exacerbates ISO protein:increased expression:esophagus (human) RGD PMID:19758438 PMID:30227324 RGD:151347669 RGD:151347672 NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442
JBrowse link
G KAT2B lysine acetyltransferase 2B ISO mRNA:decreased expression:esophagus (human) RGD PMID:19525977 RGD:9590307 NCBI chr23:23,166,722...23,242,447
Ensembl chr23:23,168,600...23,233,478
JBrowse link
G KDM4C lysine demethylase 4C severity
susceptibility
ISO protein:increased expression:esophageal epithelium, nucleus (human)
DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)
RGD PMID:15805246 PMID:24224128 RGD:9587746 RGD:9587752 NCBI chr11:27,662,764...28,101,432
Ensembl chr11:27,693,536...28,101,801
JBrowse link
G KDM5B lysine demethylase 5B severity ISO protein:increased expression:esophageal mucosa, cytoplasm (human) RGD PMID:22534467 RGD:9587776 NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386
JBrowse link
G KDM6A lysine demethylase 6A ameliorates ISO DNA:mutations:multiple (human)
protein:increased expression:esophagus (human)
mRNA:increased expression:esophagus (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:25151357 PMID:29351209 PMID:31804468 RGD:150429739 RGD:150429742 RGD:9588233 NCBI chr  X:38,745,854...38,964,029
Ensembl chr  X:38,745,854...38,959,842
JBrowse link
G KMT2C lysine methyltransferase 2C ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:25151357 RGD:9588233 NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408
JBrowse link
G KMT2D lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:esophagus
DNA:mutations:multiple (human)
CTD
RGD
PMID:25151357 PMID:29532228 RGD:150521712 RGD:9588233 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
JBrowse link
G KRT13 keratin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:21,261,233...21,265,564
Ensembl chr 9:21,156,045...21,265,564
JBrowse link
G KRT14 keratin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
JBrowse link
G KRT17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:21,155,007...21,161,407
Ensembl chr 9:21,156,045...21,265,564
JBrowse link
G KRT19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:21,240,778...21,245,039 JBrowse link
G KRT7 keratin 7 disease_progression ISO RGD PMID:29788741 RGD:151665759 NCBI chr27:2,812,709...2,827,451 JBrowse link
G LOC100686073 metallothionein-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr 2:59,603,021...59,604,173
Ensembl chr 2:59,603,014...59,604,132
JBrowse link
G LOC476070 mitotic arrest deficient 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr18:55,653,677...55,661,017 JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24716982 NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969
JBrowse link
G LTA lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G LZTS1 leucine zipper tumor suppressor 1 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic | ClinVar Annotator: match by term: LZTS1-related condition OMIM
ClinVar
PMID:10097140 PMID:25741868 PMID:26504261 PMID:28492532 NCBI chr25:36,764,235...36,814,204
Ensembl chr25:36,744,061...36,811,972
JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 sexual_dimorphism ISO DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human) RGD PMID:32753933 RGD:150573717 NCBI chr 2:43,918,210...43,996,817
Ensembl chr 2:43,917,604...43,995,209
JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase susceptibility ISO DNA:snp:cds:p.E346K (rs140693) (human)
DNA:snp:intron:IVS5-140A>G (rs3138355) (human)
RGD PMID:15205355 PMID:25162968 RGD:9588976 RGD:9588980 NCBI chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, esophagus
CTD
RGD
PMID:21674174 PMID:25520135 RGD:126790574 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380
JBrowse link
G MIR10A microRNA mir-10a ISO miRNA:increased expression:esophagus squamous epithelium (human) RGD PMID:32997362 RGD:153323343 NCBI chr 9:24,842,171...24,842,233
Ensembl chr 9:24,842,145...24,842,248
JBrowse link
G MIR127 microRNA mir-127 ISO RNA:decreased expression:esophagus (human) RGD PMID:27645894 RGD:152995354 NCBI chr 8:69,104,938...69,104,997
Ensembl chr 8:69,104,906...69,105,016
JBrowse link
G MIR193A microRNA mir-193a exacerbates ISO miRNA:decreased expression:esophagus (human) RGD PMID:27203740 RGD:153323341 NCBI chr 9:41,316,481...41,316,536
Ensembl chr 9:41,316,474...41,316,542
JBrowse link
G MIR217 microRNA mir-217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr10:56,754,566...56,754,647
Ensembl chr10:56,754,566...56,754,647
JBrowse link
G MIR31 microRNA mir-31 ameliorates ISO RGD PMID:21658006 PMID:32123074 RGD:127285381 RGD:152998938 NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503
JBrowse link
G MIR423A microRNA mir-423a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24205249 NCBI chr 9:44,155,913...44,155,971 JBrowse link
G MIR432 microRNA mir-432 ISO mRNA:increased expression:esophagus (human) RGD PMID:28760781 RGD:153002560 NCBI chr 8:69,106,415...69,106,501
Ensembl chr 8:69,106,415...69,106,501
JBrowse link
G MIR494 microRNA mir-494 ISO mRNA:decreased expression:esophagus RGD PMID:25480402 RGD:150530497 NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465
JBrowse link
G MLH1 mutL homolog 1 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus RGD PMID:21674174 RGD:126790574 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO protein:increased expression: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased activity: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased activity: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MSH2 mutS homolog 2 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus
DNA, protein:hypermethylation, decreased expression:esophagus
RGD PMID:21674174 PMID:22265839 PMID:24366688 RGD:126790560 RGD:126790573 RGD:126790574 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
JBrowse link
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857
JBrowse link
G NOTCH3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO mRNA, protein:decreased expression:esophagus (human) RGD PMID:33833989 RGD:153344568 NCBI chr 6:17,876,740...17,879,546 JBrowse link
G PBX3 PBX homeobox 3 ISO RNA:increased expression:esophagus squamous epithelium (human) RGD PMID:32449803 RGD:153345544 NCBI chr 9:57,198,531...57,429,820
Ensembl chr 9:57,199,812...57,429,811
JBrowse link
G PFN1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:31,670,483...31,671,891
Ensembl chr 5:31,670,194...31,671,895
JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729852 PMID:20729853 NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770
JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 disease_progression ISO RGD PMID:19492245 RGD:6482249 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069
JBrowse link
G PSME1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:4,131,197...4,134,001
Ensembl chr 8:4,131,345...4,134,006
JBrowse link
G PSME2 proteasome activator subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:4,137,247...4,141,380
Ensembl chr 8:4,137,247...4,140,706
JBrowse link
G PTCH1 patched 1 disease_progression ISO RGD PMID:16475698 RGD:150523841 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15756444 PMID:16543248 PMID:18197933 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G PTPRT protein tyrosine phosphatase receptor type T susceptibility ISO DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human) RGD PMID:25967969 RGD:150520191 NCBI chr24:29,992,957...30,764,469
Ensembl chr24:30,000,637...30,820,835
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 disease_progression
severity
ISO human cells in mouse model
protein:increased expression:esophagus (human)
RGD PMID:28132115 PMID:30119206 PMID:32642408 RGD:152995460 RGD:152995470 RGD:152995512 NCBI chr 4:69,903,393...70,013,168
Ensembl chr 4:69,936,379...70,010,566
JBrowse link
G RNF6 ring finger protein 6 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar
OMIM
PMID:12154016 NCBI chr25:13,199,201...13,240,347
Ensembl chr25:13,199,397...13,207,497
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO DNA:SNP: :rs2014300 (human) RGD PMID:30666517 RGD:126775149 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO mRNA:increased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785
JBrowse link
G RUNX3 RUNX family transcription factor 3 disease_progression ISO mRNA:decreased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568
G SALL4 spalt like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287
JBrowse link
G SETD5 SET domain containing 5 disease_progression ISO RGD PMID:31981592 RGD:155804254 NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674
JBrowse link
G SFN stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537
JBrowse link
G SLC16A10 solute carrier family 16 member 10 ISO protein:increased expression:esophagus RGD PMID:33609949 RGD:151361149 NCBI chr12:67,612,563...67,720,763
Ensembl chr12:67,705,037...67,719,985
JBrowse link
G SLC1A5 solute carrier family 1 member 5 disease_progression ISO protein:increased expression:esophagus RGD PMID:26936531 PMID:33609949 RGD:11532833 RGD:151361149 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141
JBrowse link
G SLC39A6 solute carrier family 39 member 6 ISO CTD Direct Evidence: therapeutic CTD PMID:23644492 NCBI chr 7:54,059,193...54,080,582
Ensembl chr 7:54,059,193...54,080,582
JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729853 NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003
JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression ISO protein:increased expression:esophagus RGD PMID:26936531 PMID:31726270 PMID:33609949 RGD:11532833 RGD:151361144 RGD:151361149 NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 severity
treatment
ISO mRNA:decreased expression:esophagus RGD PMID:21385099 PMID:28233302 PMID:31728180 RGD:150573691 RGD:150573812 RGD:150573815 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18167182 PMID:21517111 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G SOX2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801978 NCBI chr34:14,853,000...14,855,153 JBrowse link
G SPEN spen family transcriptional repressor ISO associated with Neoplasm Metastasis; DNA:mutations RGD PMID:33363385 RGD:151347445 NCBI chr 2:81,683,824...81,775,904 JBrowse link
G STIM1 stromal interaction molecule 1 exacerbates ISO protein:increased expression:esophagus (human) RGD PMID:31843504 RGD:152995393 NCBI chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072
JBrowse link
G SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 ISO DNA:SNP:exon:p.R213H, 638G>A (human) RGD PMID:12455060 RGD:1581448 NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489
JBrowse link
G TAGLN transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:16,390,259...16,395,471
Ensembl chr 5:16,390,573...16,397,207
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832
JBrowse link
G TERT telomerase reverse transcriptase no_association
susceptibility
ISO DNA:SNP: :rs2736098(human)
mRNA:increased expression:esophagus squamous epithelium:
DNA:SNPs: : rs2853691,rs2736100(human)
RGD PMID:15112252 PMID:25007268 PMID:26716642 RGD:11572962 RGD:150530488 RGD:152977757 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 severity ISO mRNA:decreased expression:esophagus squamous epithelium (human)
DNA:mutations
associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human)
RGD PMID:26093090 PMID:26873401 PMID:27050164 RGD:11528815 RGD:150429656 RGD:150429668 NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536
JBrowse link
G TET3 tet methylcytosine dioxygenase 3 ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:27050164 RGD:150429668 NCBI chr17:48,976,510...49,083,454
Ensembl chr17:48,981,558...49,082,675
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO OMIM NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 severity ISO mRNA,protein:increased expression:esophagus squamous epithelium (human) RGD PMID:28197630 RGD:151347617 NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001
JBrowse link
G TNFAIP8 TNF alpha induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21969086 NCBI chr11:8,624,106...8,685,389
Ensembl chr11:8,660,557...8,684,374
JBrowse link
G TNXB tenascin XB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr12:1,453,227...1,510,171
Ensembl chr12:1,453,260...1,509,749
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
DNA:misssense mutation: :p.R72P (rs1042522) (human)
CTD
RGD
PMID:16543248 PMID:25151357 PMID:28789369 RGD:14995932 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137
JBrowse link
G TPM1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442
JBrowse link
G TPM2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923
JBrowse link
G TXNDC17 thioredoxin domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:30,701,673...30,703,742
Ensembl chr 5:30,701,700...30,703,739
JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35022897 NCBI chr30:16,341,970...16,408,246
Ensembl chr30:16,342,009...16,408,012
JBrowse link
G VENTX VENT homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr28:40,836,688...40,840,145
Ensembl chr28:40,836,403...40,840,127
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 disease_progression ISO RGD PMID:24626331 RGD:21081532 NCBI chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333
JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar
OMIM
PMID:11956080 PMID:28492532 NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406
JBrowse link
G XPO1 exportin 1 exacerbates ISO protein:increased expression:esophagus (human)
mRNA, protein:increased expression:epithelium of esophagus (human)
RGD PMID:24898882 PMID:25148895 RGD:151667431 RGD:151667436 NCBI chr10:61,541,647...61,588,397
Ensembl chr10:61,542,211...61,585,054
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility
no_association
treatment
ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs,haplotypes:multiple (human)
DNA:missense mutation:cds: p.R399Q (human)
DNA:SNPs:exon 6, exon 9, exon 10:multiple (human)
CTD
RGD
PMID:11400117 PMID:16639733 PMID:25710005 PMID:27123143 PMID:28356949 RGD:150530501 RGD:150530505 RGD:150530634 RGD:151347444 NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816
JBrowse link
G ZCCHC12 zinc finger CCHC-type containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:91,004,777...91,008,019 JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: MMT syndrome | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome ClinVar PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 More... NCBI chr17:11,720,857...11,724,308 JBrowse link
Feingold Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: MYCN-related condition OMIM
ClinVar
PMID:25741868 PMID:30573562 NCBI chr17:11,720,857...11,724,308 JBrowse link
gastroesophageal reflux disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552517 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981
JBrowse link
G ACTL6A actin like 6A ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 PMID:28649782 NCBI chr34:12,922,506...12,988,334
Ensembl chr34:12,960,699...12,987,962
JBrowse link
G CCL26 C-C motif chemokine ligand 26 ISO protein:increased expression:esophagus (human) RGD PMID:17900656 RGD:11081162 NCBI chr 6:7,151,352...7,154,509
Ensembl chr 6:7,151,212...7,154,726
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18193101 PMID:20616304 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:24035193 NCBI chr37:26,010,531...26,017,798
Ensembl chr37:26,010,638...26,017,787
JBrowse link
G ITGA3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 NCBI chr 9:26,065,792...26,095,649
Ensembl chr 9:26,062,393...26,094,422
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21451212 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G TAC1 tachykinin precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20616304 NCBI chr14:22,631,106...22,640,283
Ensembl chr14:22,632,642...22,640,258
JBrowse link
G TLR2 toll like receptor 2 ISO protein:decreased expression:sputum, macrophage RGD PMID:21426732 RGD:7240539 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TP63 tumor protein p63 ISO OMIM:109350 MouseDO NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 NCBI chr 5:64,887,534...64,903,553 JBrowse link
Martinez-Frias Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RFX6 regulatory factor X6 ISO ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA ClinVar PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More... NCBI chr 1:57,242,563...57,297,300
Ensembl chr 1:57,241,927...57,296,546
JBrowse link
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 ISO ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia OMIM
ClinVar
PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532 NCBI chr15:53,172,914...53,236,200
Ensembl chr15:53,174,157...53,234,533
JBrowse link
Mungan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAD21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Mungan syndrome OMIM
ClinVar
PMID:14638363 PMID:18414213 PMID:25575569 PMID:25741868 PMID:28492532 NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035
JBrowse link
palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHBDF2 rhomboid 5 homolog 2 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome OMIM
ClinVar
PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:25741868 More... NCBI chr 9:4,211,951...4,240,253
Ensembl chr 9:4,226,364...4,237,825
JBrowse link
peptic esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:esophagus: RGD PMID:17570215 RGD:8699511 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO associated with Asthma;mRNA:increased expression:esophagus RGD PMID:18222984 RGD:2307110 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CLDN3 claudin 3 ISO protein:altered expression:epithelial cell, esophagus: RGD PMID:21373849 RGD:11344880 NCBI chr 6:6,534,229...6,535,237 JBrowse link
G CLDN4 claudin 4 ISO protein:altered localization:esophagus epithelium, cytoplasm RGD PMID:16143882 RGD:2317602 NCBI chr 6:6,492,706...6,506,750
Ensembl chr 6:6,493,513...6,494,145
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18193101 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G EGFR epidermal growth factor receptor ISO mRNA, protein:increased expression:esophagus, basal cell RGD PMID:11966524 RGD:10395244 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G F11R F11 receptor treatment ISO RGD PMID:19478094 RGD:7488941 NCBI chr38:21,433,819...21,456,722
Ensembl chr38:21,451,952...21,454,959
JBrowse link
G IL13 interleukin 13 ISO associated with asthma; mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid RGD PMID:18222984 RGD:2307110 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
JBrowse link
G IL5 interleukin 5 ISO associated with asthma; mRNA:increased expression:esophagus RGD PMID:18222984 RGD:2307110 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
JBrowse link
G MIR223 microRNA mir-223 ISO RNA:increased expression: esophagus RGD PMID:28757556 RGD:25824949 NCBI chr  X:50,838,131...50,838,233
Ensembl chr  X:50,838,131...50,838,233
JBrowse link
G MIR29A microRNA mir-29a ISO RGD PMID:28757556 RGD:25824949 NCBI chr14:6,184,844...6,184,903
Ensembl chr14:6,184,830...6,184,916
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO protein:decreased expression:esophageal epithelium (rat) RGD PMID:23942904 RGD:9854630 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069
JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:esophagus RGD PMID:16210398 RGD:2300085 NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232
JBrowse link
G TJP1 tight junction protein 1 ISO RGD PMID:19653339 RGD:2325133 NCBI chr 3:38,997,122...39,076,617
Ensembl chr 3:38,997,076...39,241,574
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:15942680 RGD:1580209 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:25910066 RGD:11055189 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
syndromic microphthalmia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL6A actin like 6A ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr34:12,922,506...12,988,334
Ensembl chr34:12,960,699...12,987,962
JBrowse link
G C8H14orf39 chromosome 8 C14orf39 homolog ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:35,486,476...35,542,214
Ensembl chr 8:35,487,228...35,542,218
JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr34:13,915,763...13,959,574
Ensembl chr34:13,905,434...13,959,340
JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr34:14,199,507...14,204,736
Ensembl chr34:14,199,675...14,204,687
JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr34:14,129,978...14,192,016
Ensembl chr34:14,130,017...14,191,370
JBrowse link
G MRPL47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr34:12,988,682...13,020,184
Ensembl chr34:12,988,735...13,020,149
JBrowse link
G NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr34:13,020,240...13,041,669
Ensembl chr34:13,020,345...13,040,163
JBrowse link
G PEX5L peroxisomal biogenesis factor 5 like ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr34:13,187,814...13,502,508
Ensembl chr34:13,187,807...13,416,827
JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:35,565,838...35,568,423
Ensembl chr 8:35,566,018...35,567,838
JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome OMIM
ClinVar
PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr34:14,853,000...14,855,153 JBrowse link
G TTC14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr34:13,904,072...13,913,936
Ensembl chr34:13,904,068...13,913,745
JBrowse link
G USP13 ubiquitin specific peptidase 13 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr34:13,059,099...13,175,980
Ensembl chr34:13,059,092...13,171,234
JBrowse link
Tracheoesophageal Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830
JBrowse link
G AMER3 APC membrane recruitment protein 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr19:20,444,794...20,455,969
Ensembl chr19:20,450,384...20,452,789
JBrowse link
G AP1G2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 8:3,785,085...3,793,081
Ensembl chr 8:3,629,585...3,792,725
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr20:57,380,472...57,395,249
Ensembl chr20:57,380,460...57,395,226
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:16818050 RGD:2289003 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 More... NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:2455662 PMID:3375802 PMID:16116421 PMID:16116423 PMID:16116424 More... NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 6:42,547,638...42,573,407
Ensembl chr 6:42,548,983...42,573,962
JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:18,585,918...18,631,743
Ensembl chr 9:18,585,971...18,635,570
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat) RGD PMID:15065023 RGD:12801427 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G GLS glutaminase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr37:1,433,640...1,508,347
Ensembl chr37:1,433,398...1,508,146
JBrowse link
G GTF3C1 general transcription factor IIIC subunit 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 6:19,100,699...19,174,495
Ensembl chr 6:19,100,766...19,173,972
JBrowse link
G IRF8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:66,789,264...66,812,477
Ensembl chr 5:66,791,350...66,842,179
JBrowse link
G ITSN1 intersectin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr31:29,144,754...29,360,134 JBrowse link
G KLHL17 kelch like family member 17 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:56,186,077...56,193,671
Ensembl chr 5:56,187,922...56,192,983
JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr31:29,032,399...29,063,706 JBrowse link
G LURAP1L leucine rich adaptor protein 1 like ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:33,388,300...33,437,549
Ensembl chr11:33,388,633...33,436,246
JBrowse link
G PCDH1 protocadherin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 2:36,813,663...36,836,941
Ensembl chr 2:36,813,657...36,836,497
JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145
JBrowse link
G PIK3C2G phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr27:28,446,629...28,818,198
Ensembl chr27:28,424,899...28,796,902
JBrowse link
G POLR2B RNA polymerase II subunit B ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr13:49,091,458...49,138,413
Ensembl chr13:49,090,863...49,138,487
JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 7:12,335,327...12,454,992
Ensembl chr 7:12,342,277...12,486,204
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr38:14,927,670...15,025,554
Ensembl chr38:14,928,628...15,025,865
JBrowse link
G SCLT1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:25741868 PMID:28492532 NCBI chr19:12,001,802...12,178,971
Ensembl chr19:12,001,060...12,178,680
JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr30:30,938,908...31,014,259
Ensembl chr30:30,937,849...31,014,583
JBrowse link
G TECPR1 tectonin beta-propeller repeat containing 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 6:11,086,498...11,112,236
Ensembl chr 6:11,086,423...11,112,241
JBrowse link
G TLR9 toll like receptor 9 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114
JBrowse link
G WDFY3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr32:8,430,856...8,662,988
Ensembl chr32:8,433,080...8,695,859
JBrowse link
triple-A syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: ACTH-resistant adrenal insufficiency, achalasia and alacrima | ClinVar Annotator: match by term: Achalasia alacrima syndrome | ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome | ClinVar Annotator: match by term: Achalasia-addisonianism-alacrimia syndrome | ClinVar Annotator: match by term: Achalasia-alacrima syndrome OMIM
ClinVar
PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 More... NCBI chr27:1,889,078...1,900,097
Ensembl chr27:1,889,141...1,900,094
JBrowse link
G MYG1 MYG1 exonuclease ISO ClinVar Annotator: match by term: Achalasia alacrima syndrome ClinVar NCBI chr27:1,900,360...1,905,946
Ensembl chr27:1,900,360...1,905,931
JBrowse link
VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 2:81,468,095...81,473,646
Ensembl chr 2:81,469,802...81,473,947
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 5:28,566,604...28,727,416
Ensembl chr 5:28,388,664...28,727,334
JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532 NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482
JBrowse link
G FN1 fibronectin 1 ISO protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123
JBrowse link
G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935
JBrowse link
G GLI2 GLI family zinc finger 2 ISO RGD PMID:11172440 RGD:155791680 NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658
JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:11172440 RGD:155791680 NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132
JBrowse link
G HOXD13 homeobox D13 ISO ClinVar Annotator: match by term: VACTERL association ClinVar PMID:19006232 NCBI chr36:19,901,184...19,903,837 JBrowse link
G IFT172 intraflagellar transport 172 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr17:21,389,462...21,426,970
Ensembl chr17:21,389,482...21,426,796
JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 PMID:28492532 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857
JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse)
CTD
MouseDO
RGD
PMID:18519639 RGD:11556208 NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145
JBrowse link
G QSOX1 quiescin sulfhydryl oxidase 1 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 7:13,718,799...13,754,115
Ensembl chr 7:13,718,799...13,754,114
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:12632369 RGD:12801426 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
JBrowse link
G TBC1D32 TBC1 domain family member 32 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 1:60,662,704...60,873,881
Ensembl chr 1:60,667,721...60,873,614
JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: VACTERL association ClinVar PMID:25741868 NCBI chr 6:37,544,929...37,596,789
Ensembl chr 6:37,544,580...37,597,427
JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1A bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 8:13,604,694...13,694,508
Ensembl chr 8:13,605,182...13,693,847
JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029
JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More... NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly ClinVar PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 More... NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521
JBrowse link
G ZIC3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus OMIM
ClinVar
PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:107,822,002...107,833,582
Ensembl chr  X:107,821,948...107,833,597
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      gastrointestinal system disease 6477
        esophageal disease 493
          Barrett's esophagus + 43
          Deglutition Disorders + 82
          Esophageal Cyst 0
          Esophageal Fistula + 50
          Esophageal Neoplasms + 287
          Esophageal Perforation + 0
          Esophageal Stenosis 1
          dyskinesia of esophagus + 72
          esophageal atresia + 49
          esophageal candidiasis 0
          esophageal diverticulosis 0
          esophageal leukoplakia 0
          esophageal tuberculosis 0
          esophageal varix 2
          esophagitis + 30
          megaesophagus 0
paths to the root